ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.85dup (p.Glu29fs)

dbSNP: rs2540389596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225889 SCV003806819 likely pathogenic Xeroderma pigmentosum, group E 2023-01-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 strong, PM2 moderated
Fulgent Genetics, Fulgent Genetics RCV003225889 SCV005684624 likely pathogenic Xeroderma pigmentosum, group E 2024-03-21 criteria provided, single submitter clinical testing

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